chr19:41829606:G>A Detail (hg19) (CCDC97)

Information

Genome

Assembly Position
hg19 chr19:41,829,606-41,829,606
hg38 chr19:41,323,701-41,323,701 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_052848.1:c.*986G>A
Ensemble ENST00000269967.4:c.*986G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.167
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM
HGNC 28289 HGNC
Ensembl ENSG00000142039 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62132785 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Chronic Obstructive Airway Disease Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs224... BeFree 23267696 Detail
0.244 Chronic Obstructive Airway Disease Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs224... BeFree 23267696 Detail
<0.001 Lung diseases Our results support the hypothesis that the NLRP3 inflammasome is important in t... BeFree 24142982 Detail
<0.001 Interstitial fibrosis Our results support the hypothesis that the NLRP3 inflammasome is important in t... BeFree 24142982 Detail
0.001 Interstitial fibrosis A functional polymorphism (Q705K; rs35829419) in the NLRP3 gene was associated w... BeFree 24142982 Detail
Annotation

Annotations

DescrptionSourceLinks
Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), ... DisGeNET Detail
Haplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), ... DisGeNET Detail
Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fi... DisGeNET Detail
Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fi... DisGeNET Detail
A functional polymorphism (Q705K; rs35829419) in the NLRP3 gene was associated with interstitial lun... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2241718 dbSNP
Genome
hg19
Position
chr19:41,829,606-41,829,606
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2241718
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1674
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2805
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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